Incidental Mutation 'R9106:Slco1b2'
| ID |
692012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1b2
|
| Ensembl Gene |
ENSMUSG00000030236 |
| Gene Name |
solute carrier organic anion transporter family, member 1b2 |
| Synonyms |
Slc21a6, Oatp1b2, 7330442B20Rik, mlst-1, Slc21a10 |
| MMRRC Submission |
068970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141575244-141632372 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141617974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 475
(T475A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042812]
[ENSMUST00000203597]
|
| AlphaFold |
Q9JJL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042812
AA Change: T475A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044326
Gene: ENSMUSG00000030236
AA Change: T475A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
443 |
6.1e-21 |
PFAM |
|
KAZAL
|
457 |
501 |
8.81e-4 |
SMART |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203597
AA Change: T440A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144747
Gene: ENSMUSG00000030236
AA Change: T440A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
405 |
8.4e-19 |
PFAM |
|
KAZAL
|
422 |
466 |
5.7e-6 |
SMART |
|
transmembrane domain
|
497 |
519 |
N/A |
INTRINSIC |
|
transmembrane domain
|
534 |
556 |
N/A |
INTRINSIC |
|
transmembrane domain
|
585 |
607 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (63/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
A |
1: 179,614,601 (GRCm39) |
K394N |
probably benign |
Het |
| Banp |
A |
T |
8: 122,705,372 (GRCm39) |
T81S |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,465 (GRCm39) |
E495G |
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,690,190 (GRCm39) |
I158M |
possibly damaging |
Het |
| Cgnl1 |
C |
A |
9: 71,628,873 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,753,223 (GRCm39) |
Q186L |
probably damaging |
Het |
| Clspn |
G |
A |
4: 126,471,243 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,432,162 (GRCm39) |
E224G |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,884 (GRCm39) |
L155P |
probably damaging |
Het |
| D5Ertd579e |
C |
T |
5: 36,773,682 (GRCm39) |
A238T |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,121,752 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Fam186a |
AGCCGCTGCCGCTGCCGCTGCCGC |
AGCCGCTGCCGCTGCCGC |
15: 99,844,107 (GRCm39) |
|
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,488,910 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
G |
8: 57,985,729 (GRCm39) |
D547A |
probably damaging |
Het |
| Gm1527 |
C |
A |
3: 28,956,440 (GRCm39) |
D135E |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,747 (GRCm39) |
I679T |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,467,619 (GRCm39) |
R2523S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,637 (GRCm39) |
S218R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,776,891 (GRCm39) |
A4T |
unknown |
Het |
| Ly6f |
G |
T |
15: 75,141,706 (GRCm39) |
D50Y |
probably damaging |
Het |
| Mafg |
GGTTCTTCAGTGT |
GGT |
11: 120,520,415 (GRCm39) |
|
probably null |
Het |
| Map2 |
T |
A |
1: 66,454,522 (GRCm39) |
Y1137* |
probably null |
Het |
| Map4k3 |
C |
A |
17: 81,035,257 (GRCm39) |
R21L |
possibly damaging |
Het |
| Mapk10 |
A |
T |
5: 103,186,442 (GRCm39) |
V90D |
probably damaging |
Het |
| Mapkapk3 |
T |
A |
9: 107,136,067 (GRCm39) |
E219V |
probably damaging |
Het |
| Mideas |
T |
C |
12: 84,199,327 (GRCm39) |
Y1040C |
probably damaging |
Het |
| Mos |
T |
G |
4: 3,871,457 (GRCm39) |
I120L |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,679 (GRCm39) |
V83A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,065,768 (GRCm39) |
Q19R |
probably damaging |
Het |
| Myrip |
T |
C |
9: 120,261,544 (GRCm39) |
S386P |
probably benign |
Het |
| Mzt2 |
A |
G |
16: 15,666,568 (GRCm39) |
W141R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,428,856 (GRCm39) |
Y710H |
probably damaging |
Het |
| Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,527 (GRCm39) |
S29T |
probably benign |
Het |
| Oplah |
C |
A |
15: 76,189,876 (GRCm39) |
G150C |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,625,016 (GRCm39) |
T97A |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or52a20 |
G |
A |
7: 103,366,737 (GRCm39) |
C312Y |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,986,369 (GRCm39) |
Q10R |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,908,973 (GRCm39) |
K460R |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,179,100 (GRCm39) |
|
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,680,757 (GRCm39) |
I17V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,144,789 (GRCm39) |
D134G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,570,315 (GRCm39) |
T763I |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,276,358 (GRCm39) |
D61G |
probably benign |
Het |
| Ptk2 |
T |
C |
15: 73,131,457 (GRCm39) |
M589V |
possibly damaging |
Het |
| Rabl6 |
A |
G |
2: 25,486,446 (GRCm39) |
W153R |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,109 (GRCm39) |
I843V |
|
Het |
| Resf1 |
T |
C |
6: 149,230,368 (GRCm39) |
V1138A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,977,940 (GRCm39) |
E719G |
|
Het |
| Sart3 |
T |
C |
5: 113,892,410 (GRCm39) |
D363G |
possibly damaging |
Het |
| Sgo2a |
C |
A |
1: 58,037,283 (GRCm39) |
D9E |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,725,097 (GRCm39) |
V450A |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,668,416 (GRCm39) |
Y483N |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,458 (GRCm39) |
F110L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,975 (GRCm39) |
I686V |
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,495,269 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,150,280 (GRCm39) |
N222Y |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,278,479 (GRCm39) |
V1010M |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,300,664 (GRCm39) |
I669N |
possibly damaging |
Het |
| Ubp1 |
A |
G |
9: 113,799,319 (GRCm39) |
T425A |
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,681,713 (GRCm39) |
I508T |
probably damaging |
Het |
| Vit |
G |
A |
17: 78,934,278 (GRCm39) |
D627N |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
|
| Other mutations in Slco1b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00703:Slco1b2
|
APN |
6 |
141,601,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01583:Slco1b2
|
APN |
6 |
141,609,398 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01909:Slco1b2
|
APN |
6 |
141,594,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Slco1b2
|
APN |
6 |
141,622,012 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01952:Slco1b2
|
APN |
6 |
141,616,956 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02186:Slco1b2
|
APN |
6 |
141,580,271 (GRCm39) |
splice site |
probably benign |
|
|
IGL02309:Slco1b2
|
APN |
6 |
141,618,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Slco1b2
|
APN |
6 |
141,631,251 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02359:Slco1b2
|
APN |
6 |
141,631,251 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02524:Slco1b2
|
APN |
6 |
141,616,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02701:Slco1b2
|
APN |
6 |
141,631,271 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02962:Slco1b2
|
APN |
6 |
141,594,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Slco1b2
|
UTSW |
6 |
141,615,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03052:Slco1b2
|
UTSW |
6 |
141,594,311 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0112:Slco1b2
|
UTSW |
6 |
141,616,837 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0116:Slco1b2
|
UTSW |
6 |
141,615,114 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0515:Slco1b2
|
UTSW |
6 |
141,615,136 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0831:Slco1b2
|
UTSW |
6 |
141,631,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0965:Slco1b2
|
UTSW |
6 |
141,631,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1115:Slco1b2
|
UTSW |
6 |
141,628,980 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1452:Slco1b2
|
UTSW |
6 |
141,617,926 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1630:Slco1b2
|
UTSW |
6 |
141,602,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1885:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1886:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1975:Slco1b2
|
UTSW |
6 |
141,628,951 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2394:Slco1b2
|
UTSW |
6 |
141,615,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3408:Slco1b2
|
UTSW |
6 |
141,621,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3793:Slco1b2
|
UTSW |
6 |
141,622,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4561:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4563:Slco1b2
|
UTSW |
6 |
141,616,893 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4807:Slco1b2
|
UTSW |
6 |
141,615,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Slco1b2
|
UTSW |
6 |
141,631,158 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4861:Slco1b2
|
UTSW |
6 |
141,616,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4861:Slco1b2
|
UTSW |
6 |
141,616,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4889:Slco1b2
|
UTSW |
6 |
141,602,469 (GRCm39) |
intron |
probably benign |
|
|
R4914:Slco1b2
|
UTSW |
6 |
141,615,096 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4918:Slco1b2
|
UTSW |
6 |
141,615,096 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4977:Slco1b2
|
UTSW |
6 |
141,603,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5607:Slco1b2
|
UTSW |
6 |
141,631,312 (GRCm39) |
missense |
probably benign |
|
|
R6082:Slco1b2
|
UTSW |
6 |
141,609,396 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6118:Slco1b2
|
UTSW |
6 |
141,603,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6522:Slco1b2
|
UTSW |
6 |
141,601,145 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7054:Slco1b2
|
UTSW |
6 |
141,617,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Slco1b2
|
UTSW |
6 |
141,602,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Slco1b2
|
UTSW |
6 |
141,621,950 (GRCm39) |
nonsense |
probably null |
|
|
R8891:Slco1b2
|
UTSW |
6 |
141,628,993 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8977:Slco1b2
|
UTSW |
6 |
141,628,980 (GRCm39) |
missense |
probably benign |
|
|
R9012:Slco1b2
|
UTSW |
6 |
141,602,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Slco1b2
|
UTSW |
6 |
141,598,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Slco1b2
|
UTSW |
6 |
141,602,552 (GRCm39) |
nonsense |
probably null |
|
|
R9425:Slco1b2
|
UTSW |
6 |
141,603,249 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9648:Slco1b2
|
UTSW |
6 |
141,602,655 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9652:Slco1b2
|
UTSW |
6 |
141,594,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9798:Slco1b2
|
UTSW |
6 |
141,601,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACGTATCTCTAATCAGCTC -3'
(R):5'- GAAGCTTTGCTAACTTCCTGG -3'
Sequencing Primer
(F):5'- GTATCTCTAATCAGCTCTTTCTCATG -3'
(R):5'- CCTGGTGTTAACAACTGAAGATCAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation